✦ LIBER ✦

Two additional cases of the Ohdo blepharophimosis syndrome

✍ Scribed by Maat-Kievit, Anneke ;Brunner, Han G. ;Maaswinkel-Mooij, Petra

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 568 KB
Volume: 47
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320470618

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Two additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. © 1993 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Vertical transmission of the Ohdo blepha

Vertical transmission of the Ohdo blepharophimosis syndrome

✍ Mhanni, Aizeddin A.; Dawson, Angelika J.; Chudley, Albert E. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital anomalies-mental retardation syndrome composed of blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation. Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med

“C” trigonocephaly syndrome: Two additio

“C” trigonocephaly syndrome: Two additional cases

✍ Camera, Gianni ;Serra, Giovanni ;Selicorni, Angelo 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB

Cumming Syndrome: report of two addition

Cumming Syndrome: report of two additional cases

✍ Kurt M. Dibbern; John M. Graham; Ralph S. Lachman; William R. Wilcox 📂 Article 📅 1998 🏛 Springer-Verlag 🌐 English ⚖ 483 KB

Blepharophimosis-mental retardation (BMR

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

✍ Alain Verloes; Dominique Bremond-Gignac; Bertrand Isidor; Albert David; Clarisse 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB 👁 2 views

## Abstract We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young‐

Three additional cases of the Michels sy

Three additional cases of the Michels syndrome

✍ Gabriela F. Leal; Eduardo V.P. Baptista 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 91 KB 👁 2 views

Filippi syndrome: Report of three additi

Filippi syndrome: Report of three additional cases

✍ Williams, Marc S.; Williams, Janet L.; Wargowski, David S.; Pauli, Richard M.; P 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 3 views

Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre-and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on three unrelated individuals with Filippi sy